Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001975642 | SCV002257118 | uncertain significance | Fanconi anemia | 2021-02-17 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SLX4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 851 of the SLX4 protein (p.Met851Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. |
Ambry Genetics | RCV003170264 | SCV003897770 | uncertain significance | Inborn genetic diseases | 2023-02-01 | criteria provided, single submitter | clinical testing | The c.2553G>A (p.M851I) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 2553, causing the methionine (M) at amino acid position 851 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |